Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000000781 Individual ID 00001611 Associated disease FLHS Inheritance Unknown Diagnosis/Initial - Age/Onset - Diagnosis/Definite - Age/Examination 00y11m (11 months) Phenotype details OFC 11y of 50.5cm/-2SD; Height at 11y of 116.8cm/-3.9SD; Pubertal age of 14y at chronological age of 11y; Bone age of 3-6m at chronological age of 1y; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion border; Wide mouth; Low-set ears; Broad finger tips; Clinodactyly; Dysplastic hips; Bilateral inguinal hernia; Cryptorchidism; Velopharyngeal imcompetence; Hearing loss; Moderately severe learning disability; Moderate delayed development of expressive language; special education; delayed bone age Age/Diagnosis - Birth_Details paternal age 34y; 41w; weight 2900 (-1.0) Phenotype/Onset - Height-Weight-OFC weight -4.2 Face/Philtrum short Protein - Owner name Dennis E. Bulman Database submission license No license selected Created by Dennis E. Bulman Date created 2013-07-11 03:26:01 +02:00 (CEST) Date last edited 2025-02-03 10:18:24 +01:00 (CET)

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